Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Amelia ShoemarkBruna RubboMarie LegendreMahmoud R FassadEric G HaarmanSunayna BestIrma C M BonJoost BrandsmaPierre Regis BurgelGunnar CarlssonSiobhán B CarrMary CarrollMatt EdwardsEstelle EscudierIsabelle HonoréDavid HuntGrégory JouvionMichel R LoebingerBernard MaitreDeborah Morris-RosendahlJean-Francois PaponCamille M ParsonsMitali P PatelN Simon ThomasGuillaume ThouveninWoolf T WalkerRobert WilsonClaire HoggHannah M MitchisonJane S A LucasPublished in: The European respiratory journal (2021)
This large scale, multi-national study presents PCD as a syndrome with overlapping symptoms and variations in phenotype according to genotype. TDA modelling confirmed genotype-phenotype relationships reported by smaller studies (e.g. FEV1 worse with CCDC39 mutation) and identified new relationships, including FEV1 preservation with DNAH11 mutations and diversity of severity with DNAH5 mutations.